Genetic TestsNOONAN Syndrome

• Test Name: NOONAN Syndrome
• Test Code: 4825

• Noonan syndrome 1 (OMIM #: 163950) || Gene: PTPN11 (OMIM #: 176876)

• NOONAN SYNDROME 1; NS1
• MALE TURNER SYNDROME
• FEMALE PSEUDO-TURNER SYNDROME
• TURNER PHENOTYPE WITH NORMAL KARYOTYPE
• PTPN11 Mutations

• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 7-10 days

• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia

• Dysmorphology